Endocrine Abstracts

A male with classical salt-wasting congenital adrenal hyperplasia (CAH; 21-hydroxylase deficiency) who was diagnosed in infancy and had normal pubertal growth and development attended the endocrine department for routine follow up in June 2019 (age 26). His current daily medications are hydrocortisone 10 mg on waking, 5 mg at 4 pm and fludrocortisone 200 mg once daily. He also has injectable hydrocortisone sodium phosphate 100mg for emergency use. Over recent years, he reports...

Objectives: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which is causing coronavirus disease (COVID-19), enters host cells via the angiotensin-converting enzyme 2 receptor. Its expression is higher in thyroid gland than in lungs. In the literature, an association between SARS-CoV-2 infection and subacute thyroiditis/autoimmune thyroid disease has been implicated. Therefore, we aimed to explore the influence of COVID-19 pandemic on the incidence of subacute th...

Case history: A 23-year-old Caucasian nurse presented with six months of frequent recurrent symptomatic hypoglycaemic episodes with capillary blood glucose ranging between 1.2 and 3.5 mmol/l and symptoms improving after a carbohydrate snack or a drink. The episodes were more likely to occur during fasting state and after excess physical activities. A careful history excluded intake of any off-prescription medications, dfrugs or psychosocial problem.Inves...

Introduction: UK Screening for CHT was introduced in 1981 to facilitate early detection, treatment and prevent associated morbidity and mortality. Screening in the North East and Cumbria is coordinated by the XXXXXX. A locally defined threshold of TSH >6 mU/l constitutes a positive screening test in contrast to national guidance of > 10 mU/l. We explored the longer-term outcomes of infants identified by the screening programme.Aim: The aims of th...

Introduction: The use of haematopoietic stem cell transplantation (HSCT) as a curative therapy for life threatening immunodeficiency signalled a paradigm shift in clinical outcomes. However, a subset of patients may experience Thyroid Immune Reconstitution Inflammatory Syndrome (IRIS) following immune reconstitution. This is recognised in the adult population but has received little attention in the paediatric literature. We present, what we believe to be, the first case serie...

Introduction: Testotoxicosis and other causes of precocious puberty can result in compromised final adult height and various treatments have been used in an attempt to address this. We report final height data in children with testotoxicosis who were treated with a variety of regimens and who have attained/are predicted to attain, a final height in excess of the mid-parental target.Patients and methods: Growth data from four patients with activating muta...

Introduction: National Standards and Guidelines for referral of presumptive cases of congenital hypothyroidism (CHT) were developed in 2005 by the UK newborn bloodspot screening (NBS) programme centre (UKNSPC). The standards are being revised and NBS lab experience was explored as part of this process.Methods: A short questionnaire was circulated to all 16 UK NBS laboratories. The information requested included details of referral pattern in the event of...

Hyperthyroid cats have elevated parathyroid hormone (PTH) concentrations and suppressed fibroblast growth factor-23 (FGF-23) concentrations, both of which normalise following treatment of hyperthyroidism. PTH, FGF-23, and thyroid hormone can influence the renal reabsorption of calcium and phosphate. The aim of the present study was to assess the influence of hyperthyroidism on renal tubular function in cats indirectly, by comparing the FE of electrolytes in hyperthyroid cats w...

Background: Alstrom syndrome (AS) is a very rare multisystem disorder secondary to mutations in the ALMS1 gene, associated with infantile cardiomyopathy, retinal dystrophy, early onset obesity, and diabetes. Whilst a previous international review, including 35 males, cited pubertal delay and hypogonadism to be common, no detailed characterisation of puberty exists. This retrospective longitudinal analysis aims to describe puberty in boys with AS.<p class="...

Context: Cyproterone acetate (CPA) is an androgen receptor blocker often used for testosterone suppression as a part of gender-affirming hormonal treatment (GAHT) in transgender women. In recent years, more concerns have been raised towards an increased risk of meningioma development, linked to CPA use in higher doses (25 mg or more per day).Objectives: To determine if lower doses of CPA are equally effective in maintain...